CUI1 stringlengths 8 8 | RELA stringlengths 3 54 | CUI2 stringlengths 8 8 | Name1 stringlengths 1 2.86k ⌀ | Name2 stringlengths 1 2.86k ⌀ | Def1 stringlengths 1 8.95k ⌀ | Def2 stringlengths 1 8.95k ⌀ |
|---|---|---|---|---|---|---|
C0000768 | isa | C2317185 | Congenital Abnormality | Congenital malformation of sphenoid wing | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2362640 | Congenital Abnormality | Neuronal choristoma | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2363280 | Congenital Abnormality | Cervical auricle (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2675336 | Congenital Abnormality | Duplication 15q11-q13 Syndrome | Malformations of organs or body parts during development in utero. | Syndrome characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown. The clinical picture is highly variable even within the same family. Paternal duplications are rarely symptomatic (developmental delay/ behavioral disorders). The syndrome is due to int... |
C0000768 | isa | C2675369 | Congenital Abnormality | Chromosome 22q11.2 Microduplication Syndrome | Malformations of organs or body parts during development in utero. | The association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial, establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes including heart d... |
C0000768 | isa | C2675897 | Congenital Abnormality | Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb | Malformations of organs or body parts during development in utero. | 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome. |
C0000768 | isa | C2677613 | Congenital Abnormality | Chromosome 15q13.3 Microdeletion Syndrome | Malformations of organs or body parts during development in utero. | 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features. |
C0000768 | isa | C2699510 | Congenital Abnormality | Congenital cleft hand (disorder) | Malformations of organs or body parts during development in utero. | A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. [https://orcid.org/0009-0006-4530-3154] |
C0000768 | isa | C2750325 | Congenital Abnormality | Oculootodental syndrome | Malformations of organs or body parts during development in utero. | A contiguous gene syndrome comprising otodental syndrome (globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities typically including iris and chorioretinal coloboma and sometimes microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. |
C0000768 | isa | C2919547 | Congenital Abnormality | Common atrioventricular orifice in double inlet ventricle | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2931507 | Congenital Abnormality | Sternal cleft | Malformations of organs or body parts during development in utero. | The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C2931794 | Congenital Abnormality | Chromosome 10, uniparental disomy of | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome with a highly variable phenotype. The principle characteristics are growth delay, craniofacial dysmorphism (including prominent forehead, hypertelorism, upslanting palpebral fissures, blepharophimosis, low-set malformed large ears, high arched palate, cleft lip/palate, retrognathia) ... |
C0000768 | isa | C2931816 | Congenital Abnormality | Chromosome 2, monosomy 2q24 | Malformations of organs or body parts during development in utero. | A chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 with clinical characteristics of a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia... |
C0000768 | isa | C2931817 | Congenital Abnormality | Chromosome 2q37 deletion syndrome | Malformations of organs or body parts during development in utero. | A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations. |
C0000768 | isa | C2939133 | Congenital Abnormality | Accessory liver (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2981132 | Congenital Abnormality | Shell teeth | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3164519 | Congenital Abnormality | Commissural fusion of truncal valve | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3164537 | Congenital Abnormality | Ventricular septal defect with malaligned outlet septum | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3164757 | Congenital Abnormality | Congenital stenosis of mitral subvalvular apparatus | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3532337 | Congenital Abnormality | Congenital subpulmonary stenosis due to restrictive ventricular defect associated with functionally univentricular heart | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3536714 | Congenital Abnormality | Renal dysplasia | Malformations of organs or body parts during development in utero. | The presence of developmental dysplasia of the kidney. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C3537055 | Congenital Abnormality | Pilonidal abscess | Malformations of organs or body parts during development in utero. | A hair-containing cyst or sinus usually in the coccygeal region. [https://orcid.org/0000-0002-0736-9199] |
C0000768 | isa | C3662130 | Congenital Abnormality | Congenital hypoplasia of brain | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3662134 | Congenital Abnormality | Cystic malformation of posterior fossa | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3697355 | Congenital Abnormality | 16p11.2 Deletion Syndrome | Malformations of organs or body parts during development in utero. | A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders. |
C0000768 | isa | C3711376 | Congenital Abnormality | Isodicentric Chromosome 15 Syndrome | Malformations of organs or body parts during development in utero. | A chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior. Facial dysmorphism is absent or subtle and major malformations are rare. The syndrome is usually sporadic and not inherited and results from ... |
C0000768 | isa | C4225255 | Congenital Abnormality | PMP22-RAI1 contiguous gene duplication syndrome | Malformations of organs or body parts during development in utero. | A rare partial duplication of the long arm of chromosome 17 characterised by a combination of features of 17p11.2 microduplication syndrome and Charcot-Marie-Tooth disease type 1A. Patients present with infantile onset of global developmental delay, hypotonia, feeding difficulties, and failure to thrive, as well as chi... |
C0000768 | isa | C4273657 | Congenital Abnormality | Proximal 16p11.2 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A chromosomal anomaly with characteristics of developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. The proximal 16p11.2 microdeletion syndrome most commonly refers to a distinct deletion of approximately... |
C0000768 | isa | C4274328 | Congenital Abnormality | FRAXE intellectual disability syndrome | Malformations of organs or body parts during development in utero. | FRAXE is a form of nonsyndromic X-linked mental retardation with characteristic of mild intellectual deficit. The estimated prevalence in the general population is between 1 in 100,000 and 1 in 150,000. FRAXE manifests in individuals with more than 200 CCG repeats in the 5' UTR of the AFF2 gene (Xq28). |
C0000768 | isa | C4274329 | Congenital Abnormality | FRAXF syndrome | Malformations of organs or body parts during development in utero. | FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. Prevalence is unknown. The FRAXF frag... |
C0000768 | isa | C4303435 | Congenital Abnormality | Infection causing congenital anomaly | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4303530 | Congenital Abnormality | Congenital anomaly of mother complicating pregnancy | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4304578 | Congenital Abnormality | 1p21.3 microdeletion syndrome | Malformations of organs or body parts during development in utero. | An extremely rare chromosomal anomaly with characteristics of severe speech and language delay, intellectual deficiency, autism spectrum disorder. Less than 10 cases have been reported to date. The syndrome is caused by a hemizygous interstitial microdeletion on the short arm of chromosome 1, occurring mostly de novo, ... |
C0000768 | isa | C4304594 | Congenital Abnormality | 16q24.3 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. This syndrome is caused by an interstitial deletion encompassing 16q24.3. They vary in size the common region of overlap is only 90 kb and comprises two candidates genes, ANKRD11 (Ank... |
C0000768 | isa | C4304595 | Congenital Abnormality | 16p13.11 microduplication syndrome | Malformations of organs or body parts during development in utero. | A recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. This syndrome is caused by interstitial duplications encompassing 16p13.11. The size of the rearrangements is variable. The underlying mechan... |
C0000768 | isa | C4510307 | Congenital Abnormality | Congenital hypoplasia of patella | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4518344 | Congenital Abnormality | 12q15q21.1 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12 with a highly variable phenotype. The disorder has typical characteristics of developmental delay, learning disability, intrauterine and postnatal growth retardation, and mild facial dysmorphism that changes with age.... |
C0000768 | isa | C4518821 | Congenital Abnormality | 16p11.2p12.2 microduplication syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16. The disorder has a highly variable phenotype with typical characteristics of developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder, dysmorphic facial featur... |
C0000768 | isa | C4518824 | Congenital Abnormality | Distal 16p11.2 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16. The disease has a highly variable phenotype with typical characteristics of developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural bra... |
C0000768 | isa | C4521042 | Congenital Abnormality | Complete Trisomy 21 Syndrome | Malformations of organs or body parts during development in utero. | A syndrome characterized by the presence of three complete copies of genetic material for chromosome 21, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, macroglossia, microgenia, epicanthic eyelids, and a single transverse palmar crease. |
C0000768 | isa | C4551491 | Congenital Abnormality | Congenital absence of penis | Malformations of organs or body parts during development in utero. | An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities. |
C0000768 | isa | C4551722 | Congenital Abnormality | Encephalocele | Malformations of organs or body parts during development in utero. | A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used. |
C0000768 | isa | C4706364 | Congenital Abnormality | Distal trisomy 7p syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 7. The disorder has a highly variable phenotype with typical characteristics of severe to profound psychomotor delay, intellectual disability, dysmorphic features (including dolichocephaly, microbrachycephaly, high... |
C0000768 | isa | C4706935 | Congenital Abnormality | Distal trisomy 20q syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome resulting from partial trisomy of the long arm of chromosome 20 with high phenotypic variability. The disease has characteristics of neurodevelopmental delay, cardiac malformations (ventricular septal defect, coarctation of aorta) and facial dysmorphism (large/high forehead, micropht... |
C0000768 | isa | C4707332 | Congenital Abnormality | Proximal 16p11.2 microduplication syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16. The disease has characteristics of developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation... |
C0000768 | isa | C4708545 | Congenital Abnormality | 15q13.3 microduplication syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4721530 | Congenital Abnormality | Congenital hypotrichia | Malformations of organs or body parts during development in utero. | A congenital condition, usually due to genetic aberrations, that is characterized by a lack of hair growth on the head and/or body. |
C0000768 | isa | C4749464 | Congenital Abnormality | 16q24.1 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A partial autosomal monosomy with clinical characteristics of lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological fe... |
C0000768 | isa | C4749581 | Congenital Abnormality | Distal monosomy 12p | Malformations of organs or body parts during development in utero. | A rare partial autosomal monosomy with characteristics of language development delay with childhood apraxia of speech, mild intellectual disability, autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety and mildly dysmorphic nonspecific features. Additional clinical features may include muscular... |
C0000768 | isa | C4749584 | Congenital Abnormality | Distal 7q11.23 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, d... |
C0000768 | isa | C4749854 | Congenital Abnormality | 15q11.2 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A rare partial autosomal monosomy with a variable phenotypic expression and reduced penetrance associated with an increased susceptibility to neuropsychiatric or neurodevelopmental disorders including delayed psychomotor development, speech delay, autism spectrum disorder, attention deficit-hyperactivity disorder, obse... |
C0000768 | isa | C4750782 | Congenital Abnormality | Distal 7q11.23 microduplication syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly with characteristics of a predominantly neuropsychiatric phenotype with a few dysmorphic features. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported. |
C0000768 | isa | C4750783 | Congenital Abnormality | 7q31 microdeletion syndrome | Malformations of organs or body parts during development in utero. | A rare chromosomal anomaly with characteristics of speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been rep... |
C0000768 | isa | C4751127 | Congenital Abnormality | Distal Xq28 microduplication syndrome | Malformations of organs or body parts during development in utero. | A rare hereditary syndromic intellectual disability characterised by cognitive impairment, behavioural and psychiatric problems, recurrent infections, atopic diseases and distinctive facial features in males. Females are clinically asymptomatic or mildly affected presenting mild learning difficulties and facial dysmorp... |
C0000768 | isa | C5190515 | Congenital Abnormality | Distal monosomy 7p syndrome | Malformations of organs or body parts during development in utero. | A partial autosomal monosomy with characteristics of developmental delay and intellectual disability, digital anomalies, congenital heart and urogenital anomalies and specific craniofacial features commonly including craniosynostosis. |
C0000768 | isa | C5401310 | Congenital Abnormality | Congenital malformation of lymphatic system of cervicofacial region | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5401456 | Congenital Abnormality | 17q11 deletion syndrome | Malformations of organs or body parts during development in utero. | 17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas. |
C0000768 | isa | C5437215 | Congenital Abnormality | Congenital malformation caused by valproic acid | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437478 | Congenital Abnormality | 11p15 duplication syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437536 | Congenital Abnormality | 17q23.1-q23.2 duplication syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437539 | Congenital Abnormality | 7p21.1 deletion syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437540 | Congenital Abnormality | 9p24.3 deletion syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437542 | Congenital Abnormality | 9q34 deletion syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437624 | Congenital Abnormality | 17q24-qter duplication syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437625 | Congenital Abnormality | 20p12.2 deletion syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437630 | Congenital Abnormality | 3p25.3 deletion syndrome | Malformations of organs or body parts during development in utero. | 3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterised by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. |
C0000768 | isa | C5437631 | Congenital Abnormality | 5q22.2 deletion syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5437632 | Congenital Abnormality | 7p12-p14 deletion syndrome | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5438645 | Congenital Abnormality | Paternal 14q32.2 microdeletion | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5441518 | Congenital Abnormality | Supernumerary eye muscle | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5687435 | Congenital Abnormality | Congenital anomaly of craniovertebral junction | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C5848202 | Congenital Abnormality | Congenital dilatation of lobar intrahepatic bile duct | Malformations of organs or body parts during development in utero. | A rare genetic hepatic disease characterized by multiple segmental cystic dilatations of both central and smaller peripheral bile ducts associated with congenital hepatic fibrosis. Age of symptom onset is variable, as is disease progression. Patients present recurrent cholangitis, hepatolithiasis, and cholecystolithias... |
C0000768 | inverse_isa | C0008073 | Congenital Abnormality | Developmental Disabilities | Malformations of organs or body parts during development in utero. | Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in thes... |
C0000768 | isa | C0344464 | Congenital Abnormality | Acephalothorax | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C2957119 | Congenital Abnormality | congenital anomalies of face and neck corrected | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C3649623 | Congenital Abnormality | congenital malformations of sense organs, (corrected) | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4027527 | Congenital Abnormality | ultrasound fetal posterior cranial fossa hypoplastic | Malformations of organs or body parts during development in utero. | null |
C0000768 | isa | C4536118 | Congenital Abnormality | congenital absence of urinary organ | Malformations of organs or body parts during development in utero. | null |
C0000768 | replaced_by | C0026505 | Congenital Abnormality | Monster (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | possibly_equivalent_to | C0026505 | Congenital Abnormality | Monster (disorder) | Malformations of organs or body parts during development in utero. | null |
C0000768 | replaced_by | C0158795 | Congenital Abnormality | Other and unspecified congenital anomalies | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0161951 | Congenital Abnormality | Correction of clubfoot | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0188772 | Congenital Abnormality | Reconstruction of toe for macrodactyly with bone resection | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0188774 | Congenital Abnormality | Reconstruction of cleft foot | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0188860 | Congenital Abnormality | Tendon transfer and arthrodesis to correct claw toe | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0188862 | Congenital Abnormality | Modified Johanson operation for claw toe with arthrodesis | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0188865 | Congenital Abnormality | Soft tissue release for correction of congenital deformity of forefoot | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0192325 | Congenital Abnormality | Correction of esophageal atresia | Malformations of organs or body parts during development in utero. | null |
C0000768 | possibly_equivalent_to | C0266660 | Congenital Abnormality | Triplet monster, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | possibly_equivalent_to | C0266665 | Congenital Abnormality | Single monster, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | possibly_equivalent_to | C0266685 | Congenital Abnormality | double; monster | Malformations of organs or body parts during development in utero. | null |
C0000768 | possibly_equivalent_to | C0266723 | Congenital Abnormality | Compound monster, NOS | Malformations of organs or body parts during development in utero. | null |
C0000768 | associated_morphology_of | C0332447 | Congenital Abnormality | Morphologically abnormal structure (morphologic abnormality) | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0399734 | Congenital Abnormality | Repair of congenital atresia of pylorus | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0407473 | Congenital Abnormality | Chiari osteotomy for congenital deformity of hip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0407477 | Congenital Abnormality | Salter osteotomy for congenital deformity of hip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0407481 | Congenital Abnormality | Triple pelvic osteotomy for congenital dislocation of the hip | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0408930 | Congenital Abnormality | Correction of congenital deformity of upper limb | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0408931 | Congenital Abnormality | Correction of congenital deformity of shoulder or upper arm | Malformations of organs or body parts during development in utero. | null |
C0000768 | has_focus | C0408932 | Congenital Abnormality | Correction of obstetric palsy | Malformations of organs or body parts during development in utero. | null |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.